L19L (p.Leu19Leu) variant of AQP5 (Aquaporin-5)
L19L (p.Leu19Leu) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- gnomAD 12-49962074-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 7.84
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available